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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for C6orf89 |
Gene summary |
Gene information | Gene symbol | C6orf89 | Gene ID | 221477 |
Gene name | chromosome 6 open reading frame 89 | |
Synonyms | BRAP|PS1TP5TP1 | |
Cytomap | 6p21.2 | |
Type of gene | protein-coding | |
Description | bombesin receptor-activated protein C6orf89amfion | |
Modification date | 20200313 | |
UniProtAcc | A0A024RCY0, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
C6orf89 | GO:0042060 | wound healing | 21857995 |
C6orf89 | GO:0045787 | positive regulation of cell cycle | 21857995 |
C6orf89 | GO:0050673 | epithelial cell proliferation | 21857995 |
C6orf89 | GO:1901727 | positive regulation of histone deacetylase activity | 23460338 |
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Gene structures and expression levels for C6orf89 |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for C6orf89 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_102749 | chr6 | 36885864:36886028:36894504:36894603:36899426:36899504 | 36894504:36894603 |
exon_skip_131857 | chr6 | 36879008:36879132:36883188:36883352:36899426:36899633 | 36883188:36883352 |
exon_skip_139249 | chr6 | 36916445:36916574:36919578:36919701:36923347:36923522 | 36919578:36919701 |
exon_skip_254495 | chr6 | 36885864:36886028:36892766:36892856:36899426:36899633 | 36892766:36892856 |
exon_skip_75083 | chr6 | 36885864:36886028:36894504:36894603:36899426:36899633 | 36894504:36894603 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for C6orf89 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000480824 | 36894504 | 36894603 | 5UTR-5UTR |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000373685 | 36892766 | 36892856 | 5UTR-5UTR |
ENST00000480824 | 36894504 | 36894603 | 5UTR-5UTR |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000480824 | 36894504 | 36894603 | 5UTR-5UTR |
ENST00000373685 | 36919578 | 36919701 | Frame-shift |
ENST00000480824 | 36919578 | 36919701 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C6orf89 |
p-ENSG00000198663_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in C6orf89 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for C6orf89 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for C6orf89 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C6orf89 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for C6orf89 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NOVA1 | exon_skip_102749 | 4.079790e-01 | 1.995852e-07 |
DLPFC | KHDRBS2 | exon_skip_75083 | 5.572967e-01 | 3.146673e-21 |
FL | KHDRBS3 | exon_skip_75083 | 4.689291e-01 | 1.671385e-11 |
HCC | DAZAP1 | exon_skip_75083 | -4.916565e-01 | 5.832391e-18 |
HCC | ZNF326 | exon_skip_75083 | -5.470215e-01 | 1.249318e-22 |
HCC | KHDRBS3 | exon_skip_75083 | -5.235115e-01 | 1.527736e-20 |
HCC | PTBP1 | exon_skip_75083 | -6.397166e-01 | 1.043164e-32 |
HCC | SNRNP70 | exon_skip_75083 | -5.315144e-01 | 3.102554e-21 |
IFG | KHDRBS2 | exon_skip_75083 | 5.510632e-01 | 2.372382e-03 |
IFG | KHDRBS3 | exon_skip_75083 | 4.134345e-01 | 2.875346e-02 |
IFG | NOVA1 | exon_skip_75083 | 5.178236e-01 | 4.766789e-03 |
PCC | ZNF326 | exon_skip_75083 | -4.474964e-01 | 9.789548e-12 |
PCC | PTBP1 | exon_skip_75083 | -5.777891e-01 | 4.253392e-20 |
PG | KHDRBS2 | exon_skip_75083 | 5.350918e-01 | 5.216421e-13 |
PG | KHDRBS3 | exon_skip_75083 | 5.793826e-01 | 1.869928e-15 |
PG | NOVA1 | exon_skip_75083 | 4.557743e-01 | 1.995298e-09 |
TC | SRSF2 | exon_skip_102749 | 4.109260e-01 | 8.182305e-08 |
TC | KHDRBS2 | exon_skip_102749 | 7.542171e-01 | 2.670874e-30 |
TC | KHDRBS3 | exon_skip_102749 | 6.941815e-01 | 4.845643e-24 |
TC | NUP42 | exon_skip_102749 | 6.426833e-01 | 8.794733e-20 |
TC | NOVA1 | exon_skip_102749 | 5.842556e-01 | 7.722410e-16 |
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RelatedDrugs for C6orf89 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for C6orf89 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |